[xya319]

Hello!
I am hoping to get some answers in regards to my daughters condition. My daughter was previously diagnosed with neutropenia. Her WBC have never been in a safe range. Her health otherwise is okay but her BMB gave me some major concerns. Below are the results:

Clinical History
Neutropenia.

Final Pathologic Diagnosis
Bone marrow, core biopsy, clot preparation, and aspirate, right
posterior iliac crest:
-- Mildly hypocellular bone marrow with trilineage hematopoiesis,
negative for dysplasia.
-- See Description and Comment.
Peripheral blood, phlebotomy:
-- Leukopenia with absolute neutropenia.
-- Negative for blasts.

Diagnosis Comment
The main finding in this bone marrow is hypocellularity for age, with
progressive maturation through the neutrophil phase of the granulocyte
series. Both increased peripheral consumption and ineffective
granulopoiesis are etiologic considerations. Cytogenetics are in
progress to further assess for a primary myelodysplastic syndrome. The
results will be reported in an addendum.


"Karyotype: 46,XX[20]
Interpretation: normal female karyotype."


Microscopic Description
Peripheral Blood Smear
On the Wright stained peripheral blood smear, there is a mild-moderate
leukopenia (WBC = 2.1 K/uL) with an absolute neutropenia (32%, 0.7
K/uL). The neutrophils that are present are normally lobated and
normally granulated (negative for dysplasia). The predominant cell
type is lymphoid, and the lymphocytes have a spectrum of cell sizes
from small and re
sting to intermediate sized and activated.
Circulating blasts are not identified, nor are basophils or
significant numbers of eosinophils. The red cell series is
morphologically normal, and normal by indices (hemoglobin = 12.8 g/dL,
MCV = 84 fL, RDW = 12.8%). Platelets are present in normal number by
visual estimate, concordant with the automated count of 242 k/uL.
Bone Marrow Aspirate Smears
On the Wright stained bone marrow aspirate smears, there is maturing
trilineage hematopoiesis in a neutrophil phase and the neutrophils are
normally lobated and normal granulated. The myeloid precursors exhibit
progressive maturation, without disproportionate increase in blasts
(on a targeted 200 cell differential, blasts = 1.75%). The red cell
series matures fully, and is free of overt dysplasia. Megakaryocytes
are present in normal number, and they have a normal nuclear lobation
pattern. Scattered lymphocytes and plasma cells are noted, though
neither represents more than 5% of th
e total cellularity.
Bone Marrow Core Biopsy and Clot Preparation
The core is cellular (50%, decreased for age), and contains maturing
trilineage hematopoiesis in normal proportion (M:E ratio = 2-4:1).
The myeloid series matures through the neutrophil stage, and there is
a normal localization of precursors. The erythroid series matures
fully, and is free of overt dysplasia. Megakaryocytes are present in
normal number, and they have a normal distribution within the
interstitium. Scattered lymphocytes are present within the
interstitium, but there are no suspicious lymphoid aggregates, nor are
there are granulomas. The clot preparation represents clotted blood,
with no entrapped marrow particles.


My main concern is the hypocellular bone marrow. She is only 12 years old. It looks as if they were checking for MDS but do to her karyotype being okay, that was off the table.
Is it possible to have MDS with a normal karyotype? Are her results considered normal? I really want them to push for further assessment of unclassified MDS. I would hate for us to find out something years down the road. We are looking at having another BMB in a few months.